The genetic bases of the porphyrias

Abstract

The porphyrias are disorders that result from the inherited or acquired dysregulation of one of the eight enzymes in the porphyrin-heme biosynthetic pathway. The different types of porphyrias often show overlapping findings with regard to clinical and/or biochemical features. Therefore, the establishment of screening methods for the identification of underlying mutations on the basis of direct DNA analysis may provide a more reliable approach for diagnosis of the different types of porphyrias. Here, we provide an overview of molecular biological screening techniques for mutations and the molecular bases of the porphyrias.